G411E (p.Gly411Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G411E (p.Gly411Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Platyspondylic dysplasia, Torrance type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G411E (p.Gly411Glu) variant details
- p.Gly411Glu
- rs2136577158
- ClinGen CA384554252
- ClinVar RCV001808940
- NCI-TCGA TCGA novel
- Pathogenic/Likely pathogenic
- not provided; Platyspondylic dysplasia, Torrance type
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.99
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Platyspondylic dysplasia, Torrance type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)